Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.L8L

SNCA

4,547 papers

RefSeq Summary

Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase...

Pfam Domains

Synucleinaa 1–131UCSCSynuclein

Gene Aliases

HGNC Name

synuclein alpha

HGNC Previous Symbols

PARK1; PARK4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000345.4
p.L8L
c.24T>C
Surrounding Variants
1 paper
NM_000345.4
p.L8insFs
c.23_24insC
1 paper
NM_000345.4
p.L8P
c.23T>C
3 papers
NM_000345.4
p.L8F
c.22C>T
2 papers
NM_000345.4
p.S9L
c.26C>T
1 paper
NM_000345.4
p.L8V
c.22C>G
1 paper
NM_000345.4
p.L8_S9insA
c.22_26ins3
5 papers
NM_000345.4
p.L8I
c.22C>A
2 papers
NM_000345.4
p.S9S
c.27A>T
5 papers
NM_000345.4
p.G7G
c.21A>G
1 paper
NM_000345.4
p.G7insFs
c.20_21insTG
1 paper
NM_000345.4
p.G7A
c.20G>C
2 papers
NM_000345.4
p.K10E
c.28A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."